A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15869473



Internal ID19941413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:80136818..80188788hg38UCSC Ensembl
chr2:80363944..80415913hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3851971
hg1951970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4071224
Supporting Variants
Samples
Known GenesCTNNA2
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nssv15869473
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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